T14I (p.Thr14Ile) variant of CYP19A1 (Aromatase)
T14I (p.Thr14Ile) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs916256444
- ClinGen CA392423120
- ClinVar RCV001279038
- TOPMed rs916256444
- Uncertain significance
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.64
- CADD 25.10
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Aromatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available